Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family

Gupta, Abhinav; Gupta, Deepak; Khan, Saqib Ahmad; Razi, Syed Mohd

doi:10.15605/jafes.032.01.13

Cited by 4 publications

(4 citation statements)

References 1 publication

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“…Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a developmental disorder and its diagnosis is based on four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. 4,5 All these characteristic features were present in our patient. Patients with BPES have a high incidence of bilateral strabismus and amblyopia.…”

Section: Discussionsupporting

confidence: 66%

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A Rare Case of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome with Antimongloid Slant: Case Report

Singh

Yadav

Agarwal

2022

UPJO

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Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare genetic condition caused by a mutation in the FOXL2 gene and it is inherited in an autosomal dominant pattern. Identification and diagnosis of BPES syndrome by an ophthalmologist are relatively easy, based on the characteristic ocular manifestations. The most common age group at the time of diagnosis is 4 to 8 years. Here, we present a case of BPES in a patient who presented to our OPD side with the syndrome at the age of 20 years. There is a need for increased awareness about this condition among ophthalmologists, as early diagnosis is the key factor in preventing long-term complications.

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Section: Discussionsupporting

confidence: 66%

“…Most of these case reports had reported 4 and 8 years as the most common age group at the time of diagnosis. [2][3][4][5] BPES has its genetic basis in a mutation of the FOXL2 gene, located on the long arm of chromosome 3 (3q23). Four types of deletions in chromosome 3q have been described in BPES (viz.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome with Antimongloid Slant: Case Report

Singh

Yadav

Agarwal

2022

UPJO

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“…Previous studies also concluded that the FOXL2 variant results in a relatively mild blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) phenotype (118), which is a rare autosomal dominant genetic developmental disorder in the eyelids and ovary (114). BPES has emerged to have two subtypes: type I is associated with POF, and type 2 has no systemic associations (119), wherein the different amino acid site alterations will lead to the different subtypes (120). The summary of some autosomal gene variants and related functions in the POF.…”

Section: Foxl2mentioning

confidence: 99%

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management

Yang

2023

Front. Med.

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Premature ovarian failure (POF) is an insidious cause of female infertility and a devastating condition for women. POF also has a strong familial and heterogeneous genetic background. Management of POF is complicated by the variable etiology and presentation, which are generally characterized by abnormal hormone levels, gene instability and ovarian dysgenesis. To date, abnormal regulation associated with POF has been found in a small number of genes, including autosomal and sex chromosomal genes in folliculogenesis, granulosa cells, and oocytes. Due to the complex genomic contributions, ascertaining the exact causative mechanisms has been challenging in POF, and many pathogenic genomic characteristics have yet to be elucidated. However, emerging research has provided new insights into genomic variation in POF as well as novel etiological factors, pathogenic mechanisms and therapeutic intervention approaches. Meanwhile, scattered studies of transcriptional regulation revealed that ovarian cell function also depends on specific biomarker gene expression, which can influence protein activities, thus causing POF. In this review, we summarized the latest research and issues related to the genomic basis for POF and focused on insights gained from their biological effects and pathogenic mechanisms in POF. The present integrated studies of genomic variants, gene expression and related protein abnormalities were structured to establish the role of etiological genes associated with POF. In addition, we describe the design of some ongoing clinical trials that may suggest safe, feasible and effective approaches to improve the diagnosis and therapy of POF, such as Filgrastim, goserelin, resveratrol, natural plant antitoxin, Kuntai capsule et al. Understanding the candidate genomic characteristics in POF is beneficial for the early diagnosis of POF and provides appropriate methods for prevention and drug treatment. Additional efforts to clarify the POF genetic background are necessary and are beneficial for researchers and clinicians regarding genetic counseling and clinical practice. Taken together, recent genomic explorations have shown great potential to elucidate POF management in women and are stepping from the bench to the bedside.

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“…Type I BPES is associated with eyelid abnormalities and, notably, female infertility due to premature ovarian failure. Type II BPES only includes eyelid abnormalities with no associated systemic features [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases

Alkhairy¹,

Saeed²,

Saeed³

2022

Cureus

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A 14-year-old male presented to the outpatient department of ophthalmology with complaints of visual impairment. The patient was assessed with a detailed history and physical examination. Marked amblyopia was observed on inspection, and his best-corrected vision was 6/36 in both eyes with no further improvement. Both the anterior and posterior segments of the eyes were normal. A diagnosis of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) was suspected. Surgery was initiated in two stages, with the first stage utilizing Mustarde's double Z-plasty to correct the epicanthus inversus and telecanthus. The second stage was done three months later, involving a tarsofrontalis sling with prolene sutures to correct ptosis. The success of this operation speaks to the efficacy of a two-stage procedure for remedying a syndrome as complex as BPES.

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Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family

Cited by 4 publications

References 1 publication

A Rare Case of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome with Antimongloid Slant: Case Report

A Rare Case of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome with Antimongloid Slant: Case Report

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases

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